🧫
Human filamin mutations and heterotopic neurons
active
experiment
Created: 2026-04-06T12:34:08
By: etl-v1-backfill
Quality:
50%
✓ SciDEX
ID: exp-2866de3e-fe17-4dd4-bc80-21a673fa727a
🧫 Experiment Protocol
Exploratoryheterotopic neuronsfilaminhuman patientsproposed
Analysis of human patients with filamin gene mutations to understand the role of this actin-associated protein in neuronal migration. The study examined how mutations in filamin, which is involved in leading edge extension during neuronal migration, result in heterotopic neurons (neurons located in abnormal positions). This represents a naturally occurring human genetic model for studying defective leading edge extension mechanisms during neuronal migration.
PRIMARY OUTCOME
presence of heterotopic neurons
EXPECTED OUTCOMES
mutations in filamin would cause defective leading edge extension leading to abnormal neuronal positioning
SUCCESS CRITERIA
demonstration of heterotopic neurons in patients with filamin mutations
PROTOCOL
genetic analysis and neuropathological examination of patients with filamin mutations
Source: PMID 11429281 ↗
🧫 Experiment Extras
PATHWAY
actin cytoskeleton/leading edge extension
MARKET PRICE
$0.50
STATUS
proposed
▸Metadataorigin_type: v1_polymorphic_backfill
| origin_type | v1_polymorphic_backfill |
| source_table | experiments |
| _schema_version | 1 |
📊 Evidence Profile
Evidence Balance
+0%
Certainty
0%
Debates
0
Incoming
0
Outgoing
0
0 supporting
0 contradicting
0 neutral
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